Gene Gene information from NCBI Gene database.
Entrez ID 25
Gene name ABL proto-oncogene 1, non-receptor tyrosine kinase
Gene symbol ABL1
Synonyms (NCBI Gene)
ABLBCR-ABLCHDSKMJTK7bcr/ablc-ABLc-ABL1p150v-abl
Chromosome 9
Chromosome location 9q34.12
Summary This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activity of the protein is negatively regulated by its SH3 dom
SNPs SNP information provided by dbSNP.
25
SNP ID Visualize variation Clinical significance Consequence
rs121913448 G>A Likely-pathogenic Coding sequence variant, missense variant
rs121913449 A>T Likely-pathogenic Coding sequence variant, missense variant
rs121913450 A>G Likely-pathogenic Coding sequence variant, missense variant
rs121913451 C>A,G Likely-pathogenic Coding sequence variant, missense variant
rs121913452 T>A,C,G Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
555
miRTarBase ID miRNA Experiments Reference
MIRT003032 hsa-miR-203a-3p Luciferase reporter assay 18538733
MIRT003032 hsa-miR-203a-3p Luciferase reporter assay 18538733
MIRT003032 hsa-miR-203a-3p Luciferase reporter assay 18538733
MIRT003032 hsa-miR-203a-3p Review 20029422
MIRT007197 hsa-miR-29a-3p Luciferase reporter assay 23428668
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
247
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000278 Process Mitotic cell cycle TAS 24522549
GO:0000287 Function Magnesium ion binding IDA 9144171
GO:0000287 Function Magnesium ion binding IEA
GO:0000400 Function Four-way junction DNA binding IDA 9558345
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
189980 76 ENSG00000097007
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P00519
Protein name Tyrosine-protein kinase ABL1 (EC 2.7.10.2) (Abelson murine leukemia viral oncogene homolog 1) (Abelson tyrosine-protein kinase 1) (Proto-oncogene c-Abl) (p150)
Protein function Non-receptor tyrosine-protein kinase that plays a role in many key processes linked to cell growth and survival such as cytoskeleton remodeling in response to extracellular stimuli, cell motility and adhesion, receptor endocytosis, autophagy, DN
PDB 1AB2 , 1AWO , 1BBZ , 1JU5 , 1OPL , 1ZZP , 2ABL , 2E2B , 2F4J , 2FO0 , 2G1T , 2G2F , 2G2H , 2G2I , 2GQG , 2HIW , 2HYY , 2HZ0 , 2HZ4 , 2HZI , 2O88 , 2V7A , 3CS9 , 3EG0 , 3EG1 , 3EG2 , 3EG3 , 3EGU , 3K2M , 3PYY , 3QRI , 3QRJ , 3QRK , 3T04 , 3UE4 , 3UYO , 4J9B , 4J9C , 4J9D , 4J9E , 4J9F , 4J9G , 4J9H , 4J9I , 4JJB , 4JJC , 4JJD , 4TWP , 4WA9 , 4XEY , 4YC8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00018 SH3_1 67 113 SH3 domain Domain
PF00017 SH2 127 202 SH2 domain Domain
PF07714 PK_Tyr_Ser-Thr 242 493 Protein tyrosine and serine/threonine kinase Domain
PF08919 F_actin_bind 1025 1130 F-actin binding Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed.
Sequence
MLEICLKLVGCKSKKGLSSSSSCYLEEALQRPVASDFEPQGLSEAARWNSKENLLAGPSE
NDPNLFVALYDFVASGDNTLSITKGEKLRVLGYNHNGEWCEAQTKNGQGWVPSNYITPVN
SLEKHSWYHGPVSRNAAEYLLSSGINGSFLVRESESSPGQRSISLRYEGRVYHYRINTAS
DGKLYVSSESRFNTLAELVHHH
STVADGLITTLHYPAPKRNKPTVYGVSPNYDKWEMERT
DITMKHKLGGGQYGEVYEGVWKKYSLTVAVKTLKEDTMEVEEFLKEAAVMKEIKHPNLVQ
LLGVCTREPPFYIITEFMTYGNLLDYLRECNRQEVNAVVLLYMATQISSAMEYLEKKNFI
HRDLAARNCLVGENHLVKVADFGLSRLMTGDTYTAHAGAKFPIKWTAPESLAYNKFSIKS
DVWAFGVLLWEIATYGMSPYPGIDLSQVYELLEKDYRMERPEGCPEKVYELMRACWQWNP
SDRPSFAEIHQAF
ETMFQESSISDEVEKELGKQGVRGAVSTLLQAPELPTKTRTSRRAAE
HRDTTDVPEMPHSKGQGESDPLDHEPAVSPLLPRKERGPPEGGLNEDERLLPKDKKTNLF
SALIKKKKKTAPTPPKRSSSFREMDGQPERRGAGEEEGRDISNGALAFTPLDTADPAKSP
KPSNGAGVPNGALRESGGSGFRSPHLWKKSSTLTSSRLATGEEEGGGSSSKRFLRSCSAS
CVPHGAKDTEWRSVTLPRDLQSTGRQFDSSTFGGHKSEKPALPRKRAGENRSDQVTRGTV
TPPPRLVKKNEEAADEVFKDIMESSPGSSPPNLTPKPLRRQVTVAPASGLPHKEEAGKGS
ALGTPAAAEPVTPTSKAGSGAPGGTSKGPAEESRVRRHKHSSESPGRDKGKLSRLKPAPP
PPPAASAGKAGGKPSQSPSQEAAGEAVLGAKTKATSLVDAVNSDAAKPSQPGEGLKKPVL
PATPKPQSAKPSGTPISPAPVPSTLPSASSALAGDQPSSTAFIPLISTRVSLRKTRQPPE
RIASGAITKGVVLDSTEALCLAISRNSEQMASHSAVLEAGKNLYTFCVSYVDSIQQMRNK
FAFREAINKLENNLRELQICPATAGSGPAATQDFSKLLSSVKEISDIVQR
Sequence length 1130
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  ErbB signaling pathway
Ras signaling pathway
Cell cycle
Axon guidance
Neurotrophin signaling pathway
Pathogenic Escherichia coli infection
Pathways in cancer
MicroRNAs in cancer
Chemical carcinogenesis - reactive oxygen species
Chronic myeloid leukemia
Viral myocarditis
  Regulation of actin dynamics for phagocytic cup formation
Role of ABL in ROBO-SLIT signaling
Myogenesis
RHO GTPases Activate WASPs and WAVEs
HDR through Single Strand Annealing (SSA)
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
Cyclin D associated events in G1
RUNX1 regulates transcription of genes involved in differentiation of HSCs
FCGR3A-mediated phagocytosis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
33
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
ABL1-related disorder Likely pathogenic; Pathogenic rs1831099962 RCV001249439
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormal skeletal morphology Pathogenic; Likely pathogenic rs1060499548, rs1060499547 RCV000445566
RCV000445576
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chronic myelogenous leukemia, BCR-ABL1 positive Likely pathogenic; Pathogenic rs121913459, rs137853304, rs121913457 RCV000432136
RCV000013463
RCV000420800
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital heart defects and skeletal malformations syndrome Likely pathogenic; Pathogenic rs1355021408, rs2133017541, rs2132956266, rs2133022634, rs2490715483, rs2490721921, rs1060499548, rs1060499547, rs1831097846, rs1831432715, rs1831388695, rs1831432776, rs1831433011, rs1830947813 RCV001330378
RCV001543418
RCV002273061
RCV002466765
RCV003148148
View all (9 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ABL1-related congenital heart defects and skeletal malformations syndrome Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
B-LYMPHOBLASTIC LEUKEMIA/LYMPHOMA WITH T Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Blast phase chronic myelogenous leukemia, BCR-ABL1 positive - ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BONE DEVELOPMENT DISEASE GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
2-3 toe syndactyly Syndactyly Of The Toes CLINVAR_DG 28288113
★☆☆☆☆
Found in Text Mining only
Abetalipoproteinemia Abetalipoproteinemia BEFREE 11896544, 12764379, 14697634, 15282669, 16487173, 16670264, 17392503, 19480935, 26321052, 28386107, 29030834, 30626204, 7590733, 7596189, 9087564
★☆☆☆☆
Found in Text Mining only
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 16916543, 1997745, 31428968, 7967712
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 10674911, 10812164, 11069038, 11222387, 11734316, 12631253, 12707370, 12755554, 12764379, 1317490, 17852464, 18193087, 18528425, 19234145, 1985690
View all (16 more)
★☆☆☆☆
Found in Text Mining only
Acute lymphoblastic leukemia with lymphomatous features Lymphoblastic Leukemia With Lymphomatous Features CLINVAR_DG 11853795, 11861307, 18615627, 22772060, 25157968
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 10037003, 10088201, 10198617, 10374861, 10456671, 10459357, 10468851, 10500826, 10615128, 10637472, 10640143, 10654022, 10913673, 11049022, 11054070
View all (249 more)
★☆☆☆☆
Found in Text Mining only
Acute Megakaryocytic Leukemias Megakaryocytic Leukemia BEFREE 22075327
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 10905055, 28971504, 9266939
★☆☆☆☆
Found in Text Mining only
Acute myelomonocytic leukemia Myelomonocytic Leukemia BEFREE 10905055, 23054652
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 11750052, 18769896, 22845480, 28654205
★☆☆☆☆
Found in Text Mining only